CHM p.Glu430Ter
c.1287dup · VCV3249886
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 10 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4 | GERP -0.49, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CHM
- Protein
- p.Glu430Ter
- Coding
- c.1287dup
- MANE Select
- NM_000390
- Type
- Duplication
- Location
- chrX:85901145 (GRCh38)
- Structure
- AlphaFold pLDDT 81.05
Similar variants
- CHM p.Asn283Ter Pathogenic ★★ same condition
- CHM p.Thr206fs Pathogenic ★ same condition
- CHM p.Asn46fs Likely pathogenic same condition
- CHM p.Val125fs Pathogenic same condition
- CHM c.116+1G>A Pathogenic/Likely pathogenic ★★ same condition
- CHM c.1244+1G>A Pathogenic ★★ same condition
- CHM c.189+1G>A Pathogenic ★★ same condition
- CHM c.49+5G>A Pathogenic/Likely pathogenic ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/chm-p-glu430ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown